Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

G/A/C | Ancestral: G | Ambiguity code: V | MAF: 0.01 (C)

Chromosome 12:40320043 (forward strand) | View in location tab


with COSMIC COSM1361432 (G/A), COSM1361433 (G/A) ; HGMD-PUBLIC CM084928

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 12 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_ImmunoChip

About this variant

This variant overlaps 8 transcripts, has 1094 individual genotypes, is associated with 1 phenotype and is mentioned in 11 citations.

Variation displays